Pediatr. Res. 15: 908-91 1 (1981) Summary MATERIALS AND METHODSIn a review of 13 documented cases of fetal alcohol syndrome (FAS), an increased incidence of Life-threatening bacterial infections as well as a propensity to minor infections was observed. Five of 13 patients had had at least one episode of pneumonia, two had meningitis, and one had sepsis. A comprehensive immunologic evaluation of FAS was completed, and results were compared to an age-matched control group of children with intrauterine growth retardation without FAS.Children SpeculationDefects in host defense and propensity to infection are attributable to intrauterine exposure to high levels of alcohol. Such abnormalities are not related to the degree of postnatal growth retardation nor to degree of malnutrition and do not correct with increasing age. Subsequent disease processes associated with defects in immunity such as malignancy or autoimmunity could result from this exposure to alcohol during fetal development.

A fetus with multiple malformations was identified by prenatal ultrasound investigation. Cordocentesis and fetal lymphocyte chromosome analysis demonstrated a model number of 47 chromosomes. The extra chromosome material was identified as an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm [47,XY, + i(9p)]. This represents the first report of prenatal diagnosis of tetrasomy 9p. Further delineation of the phenotype is discussed.

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A 21-yr-old man presented with inguinal lymphadenopathy and splenomegaly. The peripheral blood showed a high blast cell count. The morphological and immunologic features of the blast cells were consistent with the diagnosis of common acute lymphoblastic leukemia (ALL) with 15% pre-B-cells. Banded karyotype analysis of the blood and the marrow cells, using the technique of methotrexate synchronization, revealed the presence of (8;14) and (14;18) chromosome translocations, a finding that has not been previously documented. The significance of these findings is discussed.